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rs120074138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074138(C;T)
Make rs120074138(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position9832290
GeneSBF2
is asnp
is mentioned by
dbSNPrs120074138
ebirs120074138
HLIrs120074138
Exacrs120074138
Varsomers120074138
Maprs120074138
PheGenIrs120074138
hapmaprs120074138
1000 genomesrs120074138
hgdprs120074138
ensemblrs120074138
gopubmedrs120074138
geneviewrs120074138
scholarrs120074138
googlers120074138
pharmgkbrs120074138
gwascentralrs120074138
openSNPrs120074138
23andMers120074138
23andMe allrs120074138
SNP Nexus

SNPshotrs120074138
SNPdbers120074138
MSV3drs120074138
GWAS Ctlgrs120074138
Max Magnitude0
OMIM607697
Desc
Variant0003
Relatedalso
ClinVar
Risk rs120074138(T;T)
Alt rs120074138(T;T)
Reference rs120074138(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Variation info
Gene SBF2
CLNDBN Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Reversed 1
HGVS NC_000011.9:g.9853837G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003045.2,